MYOT Gene Limb-Girdle Muscular Dystrophy Autosomal Dominant Type 1A NGS Genetic DNA Test
Understanding Limb-Girdle Muscular Dystrophy Type 1A
Limb-girdle muscular dystrophy type 1A (LGMD1A) is a rare inherited neuromuscular disorder characterized by progressive muscle weakness and wasting primarily affecting the hip and shoulder girdle muscles. This autosomal dominant condition results from mutations in the MYOT gene, which encodes the protein myotilin essential for maintaining muscle fiber structure and function. Our advanced NGS genetic DNA test provides definitive diagnosis for this specific muscular dystrophy subtype.
What This Test Measures and Detects
This comprehensive genetic analysis utilizes next-generation sequencing technology to examine the entire coding region of the MYOT gene for pathogenic variants. The test specifically identifies:
- Missense mutations in the MYOT gene
- Nonsense mutations leading to premature stop codons
- Frameshift mutations affecting protein structure
- Splice site variants impacting gene expression
- Large deletions or duplications within the MYOT gene
Who Should Consider This Test
This genetic test is recommended for individuals presenting with:
- Progressive muscle weakness in hips and shoulders
- Difficulty climbing stairs or rising from chairs
- Waddling gait pattern
- Muscle wasting in limb-girdle regions
- Family history of muscular dystrophy
- Elevated creatine kinase levels
- Onset of symptoms in adulthood (typically 20s-40s)
- Progressive walking difficulties requiring assistance
Benefits of Genetic Testing
Undergoing MYOT gene testing provides numerous advantages:
- Definitive Diagnosis: Confirms LGMD1A and differentiates from other muscular dystrophy types
- Personalized Treatment: Enables targeted management strategies
- Genetic Counseling: Supports informed family planning decisions
- Prognostic Information: Helps anticipate disease progression
- Clinical Trial Eligibility: Opens access to emerging therapies
- Family Risk Assessment: Identifies at-risk relatives for early intervention
Understanding Your Test Results
Your genetic test results will be carefully interpreted by our expert geneticists and neurologists:
- Positive Result: Indicates a pathogenic MYOT mutation confirming LGMD1A diagnosis
- Negative Result: Suggests LGMD1A is unlikely, though other muscular dystrophies may be considered
- Variant of Uncertain Significance: Requires additional family studies for interpretation
- Carrier Status: Important for family members and reproductive planning
All positive results include comprehensive genetic counseling to discuss implications, management options, and family testing recommendations.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | MYOT Gene Limb-Girdle Muscular Dystrophy Autosomal Dominant Type 1A NGS Genetic DNA Test |
| Regular Price | $700 USD |
| Discount Price | $500 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
| Testing Method | Next-Generation Sequencing (NGS) |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, serving patients in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and neurologists ensures you receive comprehensive care regardless of your location.
Take the Next Step Toward Diagnosis
If you or a family member are experiencing symptoms suggestive of limb-girdle muscular dystrophy, don’t wait to get answers. Early diagnosis can significantly impact treatment outcomes and quality of life. Our team of genetic specialists is ready to guide you through the testing process and provide the clarity you need.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic counseling session and book your MYOT gene test. Take control of your health journey with definitive genetic answers.
